CombiGene TM Prenatal and Postnatal Microarray Analysis. The comfort of knowledge. Laboratories

Size: px
Start display at page:

Download "CombiGene TM Prenatal and Postnatal Microarray Analysis. The comfort of knowledge. Laboratories"

Transcription

1 CombiGene TM Prenatal and Postnatal Microarray Analysis The comfort of knowledge Laboratories

2 The comfort of knowledge PROCREA Cliniques Genetic Microarray Analysis CombiGene TM offers physicians, couples with family history of genetic anomalies as well as pregnant women, whose prenatal screening or prenatal ultrasound indicate a high risk of carrying a baby with Down s syndrome or other genetic diseases, the ability to diagnose with high accuracy important disabilities of genetic origin. CombiGene TM utilizes the latest technological advancements and shows an unprecedented high level of resolution allowing the detection of very small genetic modifications not detected by previous technologies. CombiGene TM has the ability to detect simultaneously over 150 anomalies that are not detected by conventional techniques including the following syndromes and conditions: Angelman DiGeorge Miller-Diecker Prader-Willi Smith-Magenis Williams Telomere deletion Uniparental disomy (UPD)* CombiGene TM versus conventional amniocentesis A common belief of women being screened for prenatal diseases through prenatal screening tests or amniocentesis (karyotype) is that these tests include all genetic diseases. Unfortunately these tests only screen for a few specific diseases and the additional tests necessary to target these disorders are only indicated under very specific conditions. CombiGene TM provides a precise, highly accurate, cost effective result far exceeding the results obtained by conventional chromosomal analysis. * UPD syndromes such as Prader-Willi are not detected by standard cytogenetics, comparative genomic hybridization (Array-CGH), fluorescence in situ hybridization (FISH) or quantitative enriched real-time PCR (QEPCR).

3 The technology of CombiGene TM This new technology was designed to look at the chromosomes in a more detailed approach. The gain or loss of genetic material at any site of the 46 chromosomes can lead to genetic diseases with significant mental or physical disabilities. CombiGene s TM advanced technology enables our laboratory specialists to achieve with confidence the highest diagnostic quality by comparing millions of DNA fragments distributed across the entire genome against the genetic material of the patient. This new analytical method precisely identifies very small genomic discrepancies as well as the genes associated with these discrepancies. Principle of CombiGene s TM technology Fluorescent tagged patients DNA hybridizes to the DNA fragments of CombiGene TM. Patient s DNA that is not recognized (non-hybridized) by the test is washed away. Non-hybridized DNA fragments. Shining a laser light over the microarray will cause only the fluorescent tagged fragments to glow identifying the DNA areas. Light emitted is quantified by a scanner.

4 When is CombiGene TM used? Prenatal diagnosis Abnormal prenatal screening results Advanced maternal age A family history of: t Chromosome abnormalities t Risk of a known genetic anomaly or mental retardation t Known inherited disorders Abnormal fetal ultrasound signs: t Cardiac anomalies t Echogenic cardiac foci t Growth development delays Postnatal diagnosis Ambiguous genitalia Birth defects Dysmorphic features Chromosome abnormalities (deletion, duplication) Mental retardation of unknown etiology Primary amenorrhea Male or female infertility Growth development delays

5 The clinical laboratory of PROCREA Cliniques is one of the few institutions having access to an advanced technology that permits the detection of a vast array of diseases. We offer you the service based on the latest technologies in genetic testing. At PROCREA Cliniques our laboratory professionals and our genetic counselors will provide you, patient and physician, with a detailed diagnosis and crucial information on the results obtained. To schedule an appointment or for additional information, please call PROCREA (Montreal, Granby) or PROCREA (Quebec City). Our price list is available on our website at

6 Montreal 1361 Beaumont Avenue Suite 301 Mont-Royal, Quebec H3P 2W3 CANADA Acadie Metro Station Tel.: PROCREA (514) Granby 177 Denison Street East Granby, Quebec J2G 4C4 CANADA Tel.:1 888 PROCREA (514) Quebec City 5600 Des Galeries Blvd. Suite 401 Quebec City, Quebec G2K 2H6 CANADA Tel.: PROCREA (418) vascodesign.com - D12464

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:

More information

Overview of Genetic Testing and Screening

Overview of Genetic Testing and Screening Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is

More information

Fluorescence in situ hybridisation (FISH)

Fluorescence in situ hybridisation (FISH) Fluorescence in situ hybridisation (FISH) rarechromo.org Fluorescence in situ hybridization (FISH) Chromosomes Chromosomes are structures that contain the genetic information (DNA) that tells the body

More information

REI Pearls: Pitfalls of Genetic Testing in Miscarriage

REI Pearls: Pitfalls of Genetic Testing in Miscarriage The Skinny: Genetic testing of miscarriage tissue is controversial and some people question if testing is helpful or not. This summary will: 1) outline the arguments for and against genetic testing; 2)

More information

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological

More information

Fact Sheet 14 EPIGENETICS

Fact Sheet 14 EPIGENETICS This fact sheet describes epigenetics which refers to factors that can influence the way our genes are expressed in the cells of our body. In summary Epigenetics is a phenomenon that affects the way cells

More information

In - Vitro Fertilization Handbook

In - Vitro Fertilization Handbook In - Vitro Fertilization Handbook William F. Ziegler, D.O. Medical Director Scott Kratka, ELD, TS Embryology Laboratory Director Lauren F. Lucas, P.A.-C, M.S. Physician Assistant Frances Cerniak, R.N.

More information

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.

More information

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal

More information

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns

More information

The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".

The following chapter is called Preimplantation Genetic Diagnosis (PGD). Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the

More information

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS CAGC Certification Logbook of Clinical Experience INSTRUCTIONS The purpose of the logbook is to show that the applicant has been significantly involved in the evaluation and counselling of patients seeking

More information

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks

More information

Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome.

Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome. Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome. Define the terms karyotype, autosomal and sex chromosomes. Explain how many of

More information

Array Comparative Genomic Hybridisation (CGH)

Array Comparative Genomic Hybridisation (CGH) Array Comparative Genomic Hybridisation (CGH) Exceptional healthcare, personally delivered What is array CGH? Array CGH is a new test that is now offered to all patients referred with learning disability

More information

Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics. January 2006

Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics. January 2006 Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics January 2006 1. BACKGROUND ICSI has been shown to be effective for male factor infertility and it also

More information

Prenatal screening and diagnostic tests

Prenatal screening and diagnostic tests Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are

More information

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical Ultrasound and Prenatal Diagnostic Center Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of

More information

Chromosomal Abnormalities

Chromosomal Abnormalities Chromosomal Abnormalities George E Tiller, MD, PhD Regional Chief, Dept. Genetics Southern California Permanente Medical Group Los Angeles, CA Objectives of Lecture list several indications for karyotyping

More information

Prenatal Testing Special tests for your baby during pregnancy

Prenatal Testing Special tests for your baby during pregnancy English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people

More information

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS) Consent to Perform Preimplantation Genetic Screening (PGS) using Array Comparative Genomic Hybridization (acgh ) or Next Generation Sequencing (NGS) Purpose The purpose of Preimplantation Genetic Screening

More information

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders Preimplantation Genetic Diagnosis Evaluation for single gene disorders What is Preimplantation Genetic Diagnosis? Preimplantation genetic diagnosis or PGD is a technology that allows genetic testing of

More information

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions

More information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

A Guide to Prenatal Genetic Testing

A Guide to Prenatal Genetic Testing Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests

More information

Thank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center.

Thank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center. Division of Medical Genetics Department of Genetics and Genomic Sciences Mailing address: One Gustave L. Levy Place, Box 1497 New York, NY 10029-6574 Patient Address: 1428 Madison Avenue (at 99th Street)

More information

Non-Invasive Prenatal Testing (NIPT) Factsheet

Non-Invasive Prenatal Testing (NIPT) Factsheet Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.

More information

Trisomy 13 (also called Patau s syndrome or T13)

Trisomy 13 (also called Patau s syndrome or T13) Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help

More information

Information leaflet. Centrum voor Medische Genetica. Version 1/20150504 Design by Ben Caljon, UZ Brussel. Universitair Ziekenhuis Brussel

Information leaflet. Centrum voor Medische Genetica. Version 1/20150504 Design by Ben Caljon, UZ Brussel. Universitair Ziekenhuis Brussel Information on genome-wide genetic testing Array Comparative Genomic Hybridization (array CGH) Single Nucleotide Polymorphism array (SNP array) Massive Parallel Sequencing (MPS) Version 120150504 Design

More information

Executive summary. Current prenatal screening

Executive summary. Current prenatal screening Executive summary Health Council of the Netherlands. NIPT: dynamics and ethics of prenatal screening. The Hague: Health Council of the Netherlands, 2013; publication no. 2013/34. In recent years, new tests

More information

Preimplantation Genetic Diagnosis (PGD) in Western Australia

Preimplantation Genetic Diagnosis (PGD) in Western Australia Preimplantation Genetic Diagnosis (PGD) in Western Australia Human somatic cells have 46 chromosomes each, made up of the 23 chromosomes provided by the egg and the sperm cell from each parent. Each chromosome

More information

National Down Syndrome Society

National Down Syndrome Society National Down Syndrome Society The national advocate for the value, acceptance and inclusion of people with Down syndrome What is Down Syndrome? Down syndrome is the most commonly occurring chromosomal

More information

Setting new standards in IVF

Setting new standards in IVF Setting new standards in IVF The clinical challenge Embryo aneuploidy is known to increase with maternal age, causing increase in miscarriage rates and decrease in live birth rates. Due to this age related

More information

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and

More information

Invasive Prenatal (Fetal) Diagnostic Testing

Invasive Prenatal (Fetal) Diagnostic Testing MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Invasive Prenatal (Fetal) Diagnostic Testing Number 12.04.116

More information

The genetic screening of preimplantation embryos by comparative genomic hybridisation

The genetic screening of preimplantation embryos by comparative genomic hybridisation Vol. 11, Suppl. 3 51 The genetic screening of preimplantation embryos by comparative genomic hybridisation Maria V Traversa 1, James Marshall, Steven McArthur, Don Leigh Genea, Sydney, Australia Received:

More information

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES Extracts from a review article by KN North and KJ Jones: Recent advances in diagnosis of the childhood muscular dystrophies Journal of Paediatrics and Child Health

More information

GENETIC COUNSELING IS IT A CAREER FOR YOU? Judith L Miller, MS, LGC April 8, 2014

GENETIC COUNSELING IS IT A CAREER FOR YOU? Judith L Miller, MS, LGC April 8, 2014 GENETIC COUNSELING IS IT A CAREER FOR YOU? Judith L Miller, MS, LGC April 8, 2014 What is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives. Most

More information

Carrier detection tests and prenatal diagnosis

Carrier detection tests and prenatal diagnosis Carrier detection tests and prenatal diagnosis There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign.

More information

Supporting Information

Supporting Information Supporting Information Yin et al. 10.1073/pnas.1518151112 Fig. S1. Characteristic Z scores of a section of DNA encompassing a deletion in sample 14,945 at (A) varying concentrations of abnormal DNA at

More information

A test your patients can trust.

A test your patients can trust. A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate

More information

REQUEST FOR IMAGe SYNDROME TESTING

REQUEST FOR IMAGe SYNDROME TESTING REQUEST FOR IMAGe SYNDROME TESTING Please provide the following information. We cannot perform your test without ALL of this information. PLEASE PRINT ALL ANSWERS PATIENT INFORMATION* FIRST NAME MI LAST

More information

UNIT 13 (OPTION) Genetic Abnormalities

UNIT 13 (OPTION) Genetic Abnormalities Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty

More information

Genetic Aspects of Mental Retardation and Developmental Disabilities

Genetic Aspects of Mental Retardation and Developmental Disabilities Prepared by: Chahira Kozma, MD Associate Professor of Pediatrics Medical Director/DCHRP Kozmac@georgetown.edu cck2@gunet.georgetown.edu Genetic Aspects of Mental Retardation and Developmental Disabilities

More information

Number 12.04.59 Effective Date August 1, 2016 Revision Date(s) 07/12/16; 10/13/15; 12/08/14; 12/09/13; 02/14/12 Replaces 2.04.59

Number 12.04.59 Effective Date August 1, 2016 Revision Date(s) 07/12/16; 10/13/15; 12/08/14; 12/09/13; 02/14/12 Replaces 2.04.59 MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES CODING DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES APPENDIX HISTORY Genetic Testing, Including Chromosomal Microarray (CMA) Analysis

More information

RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI

RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before

More information

Clinical Policy Title: Array comparative genomic hybridization testing

Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Number: 02.01.03 Effective Date: Sept 1, 2015 Initial Review Date: May 13, 2013 Most Recent Review Date: August 19,

More information

The costs of having a baby. Private system

The costs of having a baby. Private system The costs of having a baby Private system Contents Introduction 4 Weeks 1 4 5 Week 5 5 Week 6 6 Week 10 6 Week 11 7 Week 12 8 Week 15 8 Week 16 9 Week 20 9 Week 21 10 Week 22 10 Week 26 11 Week 32 11 Week

More information

Making Sense of Your Genes

Making Sense of Your Genes 1 A Guide to Genetic Counseling Making Sense of Your Genes a Guide to Genetic Counseling Contents What is genetic counseling? 1 Why might I see a genetic counselor? 1 How can I prepare for a genetic counseling

More information

European registered Clinical Laboratory Geneticist (ErCLG) Core curriculum

European registered Clinical Laboratory Geneticist (ErCLG) Core curriculum (February 2015; updated from paper issued by the European Society of Human Genetics Ad hoc committee for the accreditation of clinical laboratory geneticists, published in February 2012) Speciality Profile

More information

National Medical Policy

National Medical Policy National Medical Policy Subject: Policy Number: Single Nucleotide Polymorphism (SNP) Chromosomal Microarray Analysis for Prenatal Testing and Intellectual Disability, Developmental Delay, and Multiple

More information

ARMENIA. Albert Matevosyan MD,PhD

ARMENIA. Albert Matevosyan MD,PhD Albert Matevosyan MD,PhD Neurohereditary Diseases Charity Association Head of Republic Center of Medical Genetic and Department of Medical Genetic Yerevan State Medical University Rome EUROPLAN (Italy)

More information

SOGC recommendation on ZIKA virus exposure for clinicians caring for pregnant women and those who intend to get pregnant

SOGC recommendation on ZIKA virus exposure for clinicians caring for pregnant women and those who intend to get pregnant SOGC recommendation on ZIKA virus exposure for clinicians caring for pregnant women and those who intend to get pregnant Foreword The rapid emergence of Zika virus as a potential causative agent for fetal

More information

March 19, 2014. Dear Dr. Duvall, Dr. Hambrick, and Ms. Smith,

March 19, 2014. Dear Dr. Duvall, Dr. Hambrick, and Ms. Smith, Dr. Daniel Duvall, Medical Officer Center for Medicare, Hospital and Ambulatory Policy Group Centers for Medicare and Medicaid Services 7500 Security Boulevard Baltimore, Maryland 21244 Dr. Edith Hambrick,

More information

Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica)

Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica) Screening Programmes Fetal Anomaly Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica) Information for parents Publication date: April 2012 Review date: April 2013 Version

More information

MEDICAL GENETICS GENERAL OBJECTIVE SPECIFIC OBJECTIVES

MEDICAL GENETICS GENERAL OBJECTIVE SPECIFIC OBJECTIVES SUBJECT MEDICAL GENETICS CREDITS Total: 4.5 Theory 2.5 Practical 2 GENERAL OBJECTIVE To provide students with terminology and knowledge from the field of human genetics that will enable them to understand

More information

Neural tube defects: open spina bifida (also called spina bifida cystica)

Neural tube defects: open spina bifida (also called spina bifida cystica) Screening Programmes Fetal Anomaly Neural tube defects: open spina bifida (also called spina bifida cystica) Information for health professionals Publication date: April 2012 Review date: April 2013 Version

More information

Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota

Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota The information provided by speakers in workshops, forums, sharing/networking

More information

Patient information on soft markers

Patient information on soft markers Patient information on soft markers Before you read this section remember the following important points. The vast majority of babies with soft markers are normal. Soft markers are frequently seen in healthy

More information

Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc

Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc Cf. earlier Acts of 5 August 1994 No. 56 and 12 June 1987 No. 68 Chapter 1. Purpose and scope 1-1. Purpose

More information

Genetic Testing in Research & Healthcare

Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes

More information

INTRODUCTION TO THE UK CURRICULUM IN CLINICAL GENETICS

INTRODUCTION TO THE UK CURRICULUM IN CLINICAL GENETICS INTRODUCTION TO THE UK CURRICULUM IN CLINICAL GENETICS Clinical Geneticists work in multidisciplinary regional genetic centres in the UK, in close collaboration with laboratory scientists, clinical co-workers

More information

Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching

Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching Andria G. Besser, BEd, MS, CGC Licensed Genetic Counselor Reproductive Genetics Institute Chicago, IL Outline PGD overview In

More information

Genetics and Pregnancy Loss

Genetics and Pregnancy Loss Genetics and Pregnancy Loss Dorothy Warburton Genetics and Development (in Pediatrics) Columbia University, New York Estimates of Pregnancy Loss from Conception 1000 fertilized eggs (27% are lost) 728

More information

PGS-NGS 360 Preimplantation Genetic Screening

PGS-NGS 360 Preimplantation Genetic Screening Genetic Laboratory PGS-NGS 360 Preimplantation Genetic Screening Innovators in Reproductive Genetics PGS-NGS 360 PGS-NGS 360 is a test for aneuploidy screening of all 24 chromosomes. Primplantation genetic

More information

BlueFuse Multi Analysis Software for Molecular Cytogenetics

BlueFuse Multi Analysis Software for Molecular Cytogenetics BlueFuse Multi Analysis Software for Molecular Cytogenetics A powerful software package designed to detect and display areas of potential chromosomal abnormality within the genome. Highlights Seamless

More information

Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application

Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application PD Dr. rer. nat. Markus Stumm Zentrum für Pränataldiagnostik Kudamm-199

More information

Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2

Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2 August 2012 content 8 Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2 Maintaining fertility new opportunities in GENNET...3 Hysteroscopy without

More information

Available online at www.sciencedirect.com. Taiwanese Journal of Obstetrics & Gynecology 51 (2012) 77e82. Short Communication. Accepted 25 October 2011

Available online at www.sciencedirect.com. Taiwanese Journal of Obstetrics & Gynecology 51 (2012) 77e82. Short Communication. Accepted 25 October 2011 Available online at www.sciencedirect.com Taiwanese Journal of Obstetrics & Gynecology 51 (2012) 77e82 Short Communication Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and acgh analyses

More information

A test your patients can trust. A company you know and trust.

A test your patients can trust. A company you know and trust. A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation

More information

Optional Tests Offered Before and During Pregnancy

Optional Tests Offered Before and During Pregnancy Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth

More information

Chromosomes, Mapping, and the Meiosis Inheritance Connection

Chromosomes, Mapping, and the Meiosis Inheritance Connection Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory

More information

The Genetics of Beckwith Wiedemann Syndrome (BWS)

The Genetics of Beckwith Wiedemann Syndrome (BWS) The Genetics of Beckwith Wiedemann Syndrome (BWS) Introduction Beckwith Wiedemann Syndrome (BWS) is an overgrowth disorder caused by changes in the activity of growth promoting and growth suppressing genes.

More information

Wissenschaftliche Highlights der GSF 2007

Wissenschaftliche Highlights der GSF 2007 H Forschungszentrum für Umwelt und Gesundheit GmbH in der Helmholtzgemeinschaft Wissenschaftlich-Technische Abteilung Wissenschaftliche Highlights der GSF 2007 Abfrage Oktober 2007 Institut / Selbst. Abteilung

More information

Genetic methods for assessing embryo viability and improving IVF treatment

Genetic methods for assessing embryo viability and improving IVF treatment Genetic methods for assessing embryo viability and improving IVF treatment Prof. Dagan Wells, PhD, FRCPath Reprogenetics UK Points for discussion Diagnosis of inherited disorders in preimplantation embryos

More information

Genetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association

Genetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association 6 Genetic testing The difference diagnostics can make The British In Vitro Diagnostics Association Genetic INTRODUCTION testing The Department of Health published Our Inheritance, Our Future - Realising

More information

TERATOGENESIS ONTOGENESIS

TERATOGENESIS ONTOGENESIS TERATOGENESIS ONTOGENESIS Inborn developmental defects Occured during prenatal development Are present by delivery At about 3-5 % newborns are affected. Inborn developmental defects 1. CHROMOSOMAL ABERRATIONS

More information

Communicating with Families about Family History and Genetics

Communicating with Families about Family History and Genetics Communicating with Families about Family History and Genetics Abdallah F. Elias, M.D. Providence Genetics Clinic at Grant Creek & Florence Family Practice Department of Biomedical and Pharmaceutical Sciences

More information

Gene Mapping Techniques

Gene Mapping Techniques Gene Mapping Techniques OBJECTIVES By the end of this session the student should be able to: Define genetic linkage and recombinant frequency State how genetic distance may be estimated State how restriction

More information

Agilent CytoGenomics Software A Complete Solution for Cytogenetic Research Data Analysis

Agilent CytoGenomics Software A Complete Solution for Cytogenetic Research Data Analysis Agilent CytoGenomics Software A Complete Solution for Cytogenetic Research Data Analysis Technical Overview Streamlines the cytogenetic research workflow for finding CNCs, LOH, and UPD Enables manual sample

More information

Robertsonian Translocations

Robertsonian Translocations Robertsonian Translocations rarechromo.org Robertsonian translocations A Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together.

More information

Balanced. translocations. rarechromo.org. Support and Information

Balanced. translocations. rarechromo.org. Support and Information Support and Information Rare Chromosome Disorder Support Group, G1, The Stables, Station Rd West, Oxted, Surrey. RH8 9EE Tel: +44(0)1883 723356 info@rarechromo.org I www.rarechromo.org Balanced Unique

More information

Medical Policy Preimplantation Genetic Testing

Medical Policy Preimplantation Genetic Testing Medical Policy Preimplantation Genetic Testing Table of Contents Policy: Commercial Coding Information Information Pertaining to All Policies Policy: Medicare Description References Authorization Information

More information

Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL

Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL Objectives Role of Medical Genetics in Hearing Loss Evaluation Millan Patel, MD UBC Dept. of Medical Genetics October 22, 2010 Case presentation to illustrate importance of defining syndromic hearing loss

More information

Ehlers-Danlos Syndrome Fertility Issues. Objectives

Ehlers-Danlos Syndrome Fertility Issues. Objectives Ehlers-Danlos Syndrome Fertility Issues Baltimore Inner Harbor Independence Day Brad Hurst, M.D. Professor Reproductive Endocrinology Carolinas Medical Center - Charlotte, North Carolina Objectives Determine

More information

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report 0 The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report Joan K Morris, Elizabeth De Souza December 2009 National Down Syndrome Cytogenetic Register Queen Mary University

More information

Birth defects. Report by the Secretariat

Birth defects. Report by the Secretariat EXECUTIVE BOARD EB126/10 126th Session 3 December 2009 Provisional agenda item 4.7 Birth defects Report by the Secretariat 1. In May 2009 the Executive Board at its 125th session considered an agenda item

More information

Who Is Involved in Your Care?

Who Is Involved in Your Care? Patient Education Page 3 Pregnancy and Giving Birth Who Is Involved in Your Care? Our goal is to surround you and your family with a safe environment for the birth of your baby. We look forward to providing

More information

Gene Therapy and Genetic Counseling. Chapter 20

Gene Therapy and Genetic Counseling. Chapter 20 Gene Therapy and Genetic Counseling Chapter 20 What is Gene Therapy? Treating a disease by replacing, manipulating or supplementing a gene The act of changing an individual s DNA sequence to fix a non-functional

More information

Assisted reproductive technologies (ART) in Canada: 2011 results from the Canadian ART Register

Assisted reproductive technologies (ART) in Canada: 2011 results from the Canadian ART Register 1 Assisted reproductive technologies (ART) in Canada: 2011 results from the Canadian ART Register Joanne Gunby, M.Sc. CARTR Co-ordinator Email: gunbyj@mcmaster.ca Supported by the IVF Directors Group of

More information

Delivering the Promise of Genetic and Genomic Medicine. From Research to Clinical Care:

Delivering the Promise of Genetic and Genomic Medicine. From Research to Clinical Care: A m e r i c a n C o l l e g e o f M e d i c a l G e n e t i c s a n d G e n o m i c s Tr a n s l a t i n g G e n e s I n t o H e a l t h From Research to Clinical Care: Delivering the Promise of Genetic

More information

Chromosomal Microarray Analysis (CMA)

Chromosomal Microarray Analysis (CMA) Chromosomal Microarray Analysis (CMA) Medical Genetics Laboratories Department of Molecular and Human Genetics Baylor College of Medicine Table of Contents Overview of CMA Examples of Common Findings Examples

More information

FERTILITY AND AGE. Introduction. Fertility in the later 30's and 40's. Am I fertile?

FERTILITY AND AGE. Introduction. Fertility in the later 30's and 40's. Am I fertile? FERTILITY AND AGE Introduction Delaying pregnancy is a common choice for women in today's society. The number of women in their late 30s and 40s attempting pregnancy and having babies has increased in

More information

Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes.

Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Genetic Mutations Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Agenda Warm UP: What is a mutation? Body cell? Gamete? Notes on Mutations Karyotype Web Activity

More information

PROVIDER POLICIES & PROCEDURES

PROVIDER POLICIES & PROCEDURES PROVIDER POLICIES & PROCEDURES BRCA GENETIC TESTING The purpose of this document is to provide guidance to providers enrolled in the Connecticut Medical Assistance Program (CMAP) on the requirements for

More information

Assisted Reproductive Technologies at IGO

Assisted Reproductive Technologies at IGO 9339 Genesee Avenue, Suite 220 San Diego, CA 92121 858 455 7520 Assisted Reproductive Technologies at IGO Although IGO no longer operates an IVF laboratory or program as such, we work closely with area

More information

http://english.gov.cn/laws/2005-08/24/content_25746.htm

http://english.gov.cn/laws/2005-08/24/content_25746.htm Page 1 of 5 Measures for Implementation of the Law of the People's Republic of China on Maternal and Infant Care (Promulgated by Decree No.308 of the State Council of the People's Republic of China on

More information

1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects

1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects 1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects Ana Stavljenić-Rukavina Zagreb University School of Medicine, Croatia The standard measures for population health outcomes is based on

More information

Special Report: acgh for the Genetic Evaluation of Patients with Developmental Delay/ Mental Retardation or Autism Spectrum Disorder

Special Report: acgh for the Genetic Evaluation of Patients with Developmental Delay/ Mental Retardation or Autism Spectrum Disorder Technology Evaluation Center Special Report: acgh for the Genetic Evaluation of Patients with Developmental Delay/ Mental Retardation or Autism Spectrum Disorder Assessment Program Volume 23, No. 10 April

More information

FREQUENTLY ASKED QUESTIONS ABOUT IVF

FREQUENTLY ASKED QUESTIONS ABOUT IVF FREQUENTLY ASKED QUESTIONS ABOUT IVF Is there something we can do to improve our chances of succes? Even though IVF treatment is a medical process on which you have no influence, there are a number of

More information